Entity Details

Primary name TONSL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96HA7
EntryNameTONSL_HUMAN
FullNameTonsoku-like protein
TaxID9606
Evidenceevidence at protein level
Length1378
SequenceStatuscomplete
DateCreated2008-04-08
DateModified2021-06-02

Ontological Relatives

GenesTONSL

GO terms

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GOName
GO:0000724 double-strand break repair via homologous recombination
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016604 nuclear body
GO:0031297 replication fork processing
GO:0042393 histone binding
GO:0043596 nuclear replication fork

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001611 Leucine-rich repeatRepeatRepeat
IPR002110 Ankyrin repeatRepeatRepeat
IPR011990 Tetratricopeptide-like helical domain superfamilyFamilyHomologous superfamily
IPR019734 Tetratricopeptide repeatRepeatRepeat
IPR020683 Ankyrin repeat-containing domainDomainDomain
IPR032675 Leucine-rich repeat domain superfamilyFamilyHomologous superfamily
IPR036770 Ankyrin repeat-containing domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
271510 OMIMSpondyloepimetaphyseal dysplasia, sponastrime type (SEMDSP)An autosomal recessive bone disease characterized by spine abnormalities, mid-face hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Disease severity and clinical manifestations are variable. Some patients have mental retardation. The disease is caused by variants affecting the gene represented in this entry.